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Article

Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.

Journal of inherited metabolic disease - 1 Dec 1998

Coudé M, Aupetit J, Zabot M T, Kamoun P, Chadefaux-Vekemans B

Abstract excerpt

We describe four new mutations in the cystathionine beta-synthase gene: three point mutations localized in exons 3, 9 and 10 and one mutation in exon 12 which results in stop codon.

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Source

Identifiers

PMID: 9870207
DOI: 10.1023/a:1005466601461

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.PMID 9870207Read ↗

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